C108R Summary

KCNH2 C108R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C108R is not present in gnomAD. C108R has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.


C108R Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

C108R Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

PAM Score REVEL Score PROVEAN Score Polyphen2 Score BLAST-PSSM
NA 0.961 -8.531 0.946 -4

C108R has 49 neighbors (found in individuals) within 15 ångströms

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms. NOTE: some residues appear multiple times at different distances. This results from the fact that the functional Kv11.1 channel is a homotetramer and occasionally the same residue from multiple subunits is present within the 15A window. All variants shown in the rightmost column have been observed in at least one individual in the literature or gnomAD.

ResidueNumber Distance(Å) Variants
27 12.9 R27P R27X
28 9 K28E
29 13.4 F29L F29S F29V
30 13.1 I30Del I30T
47 12.9 G47C G47V
48 11.1
49 14.8 C49G C49R
50 14.2 E50X
51 8.9
52 11.6 C52W
53 15 G53R G53S
64 15 C64R C64Y
65 14 T65P
66 12.5 C66G C66R C66Y
68 14.3 F68L F68V
69 10.4 L69Del L69P
70 11.8 H70Q H70R
71 13.4 G71E G71R G71W
73 12.4 R73C R73fsX R73G R73H
74 11.8 T74fsX T74M
75 12.7 Q75X
78 11.9 A78P A78T
79 12.8 A79Del A79fsX A79S A79T
81 13.5 Q81E Q81H Q81P Q81X
82 12 I82Del I82dup I82Ins I82T
92 14.9 R92C R92L
93 10.3 K93R K93X
94 8.5 V94A V94L
95 6.5 E95G E95K
96 6 I96T I96V
97 6.6
98 6.1
99 11 Y99N Y99S
100 10.7 R100G R100P R100Q
103 14.9
104 12.7
105 9.7
106 5.9 F106L F106V
107 4.8 L107P
109 4.6 L109P L109Q L109X
110 6.2 V110A
111 9.9 D111V
112 12.2 V112M
126 14.8
127 10.9
128 9.2 N128S
129 6.1 F129C
130 6.3 E130K
131 5.5 V131fsX V131L